List of works - Paolo Colomba

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

scientific article

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

scientific article published on 2 October 2014

Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study

scientific article published on 20 August 2014

De novo mutation in a male patient with Fabry disease: a case report

scientific article

Effects of Parietaria judaica pollen extract on human microvascular endothelial cells

scientific article published on 02 June 2008

Effects of carboxyamidotriazole on in vitro models of imatinib-resistant chronic myeloid leukemia.

scientific article

Heterogeneity within and between primary colorectal carcinomas and matched metastases as revealed by analysis of Ki-ras and p53 mutations.

scientific article published in December 2004

High variability of Fabry disease manifestations in an extended Italian family.

scientific article published on 22 April 2015

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.

scientific article published on 27 March 2013

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

scientific article published on 19 March 2012

Identification of biomarkers in cerebrospinal fluid and serum of multiple sclerosis patients by immunoproteomics approach

scientific article

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

scientific article published on 29 May 2017

Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease ⬇️

scientific article published on August 20, 2012

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

scientific article published on 12 December 2015

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

article

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.

scientific article published on 17 October 2013

Response to Simsek et al.

scientific article published on 5 April 2013

Role of S128R polymorphism of E-selectin in colon metastasis formation.

scientific article published on August 2007

Two distinct amplification events of the c-myc locus in a colorectal tumour.

scientific article published in October 2008

List of works by Paolo Colomba

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study

De novo mutation in a male patient with Fabry disease: a case report

Effects of Parietaria judaica pollen extract on human microvascular endothelial cells

Effects of carboxyamidotriazole on in vitro models of imatinib-resistant chronic myeloid leukemia.

Heterogeneity within and between primary colorectal carcinomas and matched metastases as revealed by analysis of Ki-ras and p53 mutations.

High variability of Fabry disease manifestations in an extended Italian family.

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

Identification of biomarkers in cerebrospinal fluid and serum of multiple sclerosis patients by immunoproteomics approach

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease ⬇️

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.

Response to Simsek et al.

Role of S128R polymorphism of E-selectin in colon metastasis formation.

Two distinct amplification events of the c-myc locus in a colorectal tumour.